Term Name: | HRPT-related hyperuricemia |
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Synonyms: | HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, hypoxanthine guanine phosphoribosyltransferase partial deficiency, Kelley-Seegmiller syndrome |
Definition: | A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. |
Ontology: | Human Disease [DOID:0112127] ( DOID:0112127 ) |